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ONTOLOGY REPORT - ANNOTATIONS


Term:congenital disorder of glycosylation Ii
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Accession:DOID:0080561 term browser browse the term
Definition:A congenital disorder of glycosylation I that is characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors and has_material_basis_in compound heterozygous mutation in the ALG2 gene on chromosome 9q22. (DO)
Synonyms:exact_synonym: CDG Ii;   CDG1I;   CDGIi;   Congenital Disorder of Glycosylation Type 1I;   congenital disorder of glycosylation 1i;   congenital disorder of glycosylation type Ii;   congenital disorders of glycosylation type Ii
 primary_id: MESH:C535747
 alt_id: DOID:9000402;   OMIM:607906;   RDO:0001036
 xref: GARD:9836;   ORDO:79326
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congenital disorder of glycosylation Ii term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Alg2 ALG2, alpha-1,3/1,6-mannosyltransferase JBrowse link 5 63,187,466 63,192,025 RGD:7240710
RGD:8554872
G Ccdc115 coiled-coil domain containing 115 JBrowse link 9 37,774,876 37,778,839 RGD:8554872
G Tmem199 transmembrane protein 199 JBrowse link 10 65,775,721 65,780,293 RGD:8554872

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Term Annotations click to browse term
  disease 15619
    Nutritional and Metabolic Diseases 4374
      disease of metabolism 4374
        inherited metabolic disorder 1864
          carbohydrate metabolic disorder 320
            congenital disorder of glycosylation 105
              congenital disorder of glycosylation type I 59
                congenital disorder of glycosylation Ii 3
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          inherited metabolic disorder 1864
            carbohydrate metabolic disorder 320
              congenital disorder of glycosylation 105
                congenital disorder of glycosylation type I 59
                  congenital disorder of glycosylation Ii 3
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.